ReviewJournal of endocrinological investigation2026
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Review in Journal of endocrinological investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Functional analysis of 11 CYP21A2 variants reveals greater loss of enzyme activity in cis variants and improves genotype-phenotype correlation in 21-hydroxylase deficiency.Journal of endocrinological investigation · 2026Article
- Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants.Archives of endocrinology and metabolism · 2026Article
- Clinical pregnancy outcomes with assisted reproduction in patients with 17α-Hydroxylase/17, 20-lyase deficiency: a single center cohort study and integrated analysis with reported cases.Frontiers in endocrinology · 2026Article
- Successful live birth in a woman with partial 17α-hydroxylase/17,20 lyase deficiency: a case report.Frontiers in medicine · 2026Article
Corrections and comments
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Authors and funding
5 authors.
Funding
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Abstract
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by numerous variants in several genes encoding enzymes involved in adrenal steroidogenesis. While 21-hydroxylase deficit is the most common and well-known form of CAH, accounting for 90%-95% of cases, there are six other forms of CAH, due to mutations in the genes of other key enzymes involved in adrenal steroidogenesis. These forms are less frequent and, consequently, clinician experience is extremely limited. These disorders are 11β-hydroxylase deficiency (11βOHD); 17α-hydroxylase/17,20-lyase deficiency (17OHD); 3β-hydroxysteroid dehydrogenase type 2 deficiency (3ΒHSD2D); P450 oxidoreductase deficiency (PORD); steroidogenic acute regulatory protein (StAR) deficiency, causing congenital lipoid adrenal hyperplasia and cholesterol side-chain cleavage enzyme (P450scc) deficiency. This narrative review therefore focuses on these rarer forms of CAH, providing an update on their clinical presentation, diagnosis, management, and treatment.
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Registered trials
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